Incidental Mutation 'R6502:Herc4'
| ID |
519805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Herc4
|
| Ensembl Gene |
ENSMUSG00000020064 |
| Gene Name |
hect domain and RLD 4 |
| Synonyms |
4921531D01Rik, 1700056O17Rik, 9530080M15Rik |
| MMRRC Submission |
044634-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.855)
|
| Stock # |
R6502 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
63079589-63153657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 63153197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 1035
(T1035K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020257]
[ENSMUST00000020258]
[ENSMUST00000105442]
[ENSMUST00000120239]
[ENSMUST00000146028]
[ENSMUST00000177694]
[ENSMUST00000219577]
|
| AlphaFold |
Q6PAV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020257
|
| SMART Domains |
Protein: ENSMUSP00000020257
Gene: ENSMUSG00000020063
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
Pfam:SIR2
|
253 |
439 |
1.3e-62 |
PFAM |
|
PDB:4KXQ|B
|
629 |
648 |
4e-6 |
PDB |
|
low complexity region
|
649 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
713 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020258
AA Change: T1027K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020258
Gene: ENSMUSG00000020064
AA Change: T1027K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
1 |
49 |
5.1e-11 |
PFAM |
|
Pfam:RCC1_2
|
36 |
65 |
1.2e-9 |
PFAM |
|
Pfam:RCC1
|
52 |
99 |
7.9e-16 |
PFAM |
|
Pfam:RCC1_2
|
86 |
115 |
2.8e-11 |
PFAM |
|
Pfam:RCC1
|
102 |
152 |
7.6e-18 |
PFAM |
|
Pfam:RCC1_2
|
139 |
168 |
9.9e-14 |
PFAM |
|
Pfam:RCC1
|
156 |
205 |
2.2e-15 |
PFAM |
|
Pfam:RCC1_2
|
194 |
221 |
4.9e-10 |
PFAM |
|
Pfam:RCC1
|
208 |
257 |
3.5e-17 |
PFAM |
|
Pfam:RCC1
|
260 |
309 |
9.4e-14 |
PFAM |
|
Pfam:RCC1
|
313 |
376 |
2.7e-8 |
PFAM |
|
HECTc
|
720 |
1049 |
1.19e-135 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105442
|
| SMART Domains |
Protein: ENSMUSP00000101082
Gene: ENSMUSG00000020063
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
|
Pfam:SIR2
|
214 |
400 |
4e-63 |
PFAM |
|
PDB:4KXQ|B
|
590 |
609 |
3e-6 |
PDB |
|
low complexity region
|
610 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120239
|
| SMART Domains |
Protein: ENSMUSP00000112595
Gene: ENSMUSG00000020063
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
Pfam:SIR2
|
253 |
439 |
6.5e-64 |
PFAM |
|
PDB:4KXQ|B
|
629 |
648 |
4e-6 |
PDB |
|
low complexity region
|
649 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
713 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146028
|
| SMART Domains |
Protein: ENSMUSP00000117819
Gene: ENSMUSG00000020063
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
83 |
140 |
1.9e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177694
|
| SMART Domains |
Protein: ENSMUSP00000137565
Gene: ENSMUSG00000020063
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
Pfam:SIR2
|
253 |
439 |
7.3e-63 |
PFAM |
|
low complexity region
|
465 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219577
AA Change: T1035K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219789
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele display reduced male fertility associated with a high percentage of angulated sperm tails and impaired sperm motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
T |
6: 124,333,908 (GRCm39) |
I24K |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,849,316 (GRCm39) |
C467S |
probably damaging |
Het |
| Adcy7 |
G |
A |
8: 89,052,107 (GRCm39) |
R925Q |
probably damaging |
Het |
| Akap6 |
G |
A |
12: 53,186,998 (GRCm39) |
G1471S |
probably damaging |
Het |
| Ap2b1 |
T |
C |
11: 83,233,505 (GRCm39) |
V506A |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,051,814 (GRCm39) |
I1113M |
probably damaging |
Het |
| Arsg |
A |
T |
11: 109,408,162 (GRCm39) |
N105Y |
probably damaging |
Het |
| Blm |
T |
A |
7: 80,131,223 (GRCm39) |
Y872F |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,961,017 (GRCm39) |
N797Y |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,846,320 (GRCm39) |
E201G |
probably damaging |
Het |
| Ccdc122 |
T |
A |
14: 77,279,509 (GRCm39) |
|
probably null |
Homo |
| Ccdc141 |
A |
G |
2: 77,000,745 (GRCm39) |
V29A |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,405,447 (GRCm39) |
D277E |
probably benign |
Het |
| Cfap157 |
T |
C |
2: 32,670,690 (GRCm39) |
Y186C |
probably damaging |
Het |
| Ciita |
C |
T |
16: 10,329,774 (GRCm39) |
A686V |
probably damaging |
Het |
| Clptm1l |
T |
C |
13: 73,765,884 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
C |
T |
4: 129,949,787 (GRCm39) |
P50L |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,546,804 (GRCm39) |
V38D |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,112,173 (GRCm39) |
E1010G |
probably damaging |
Het |
| Dvl3 |
G |
A |
16: 20,346,133 (GRCm39) |
E488K |
probably damaging |
Het |
| Eed |
C |
A |
7: 89,626,237 (GRCm39) |
E45D |
probably benign |
Het |
| Eln |
A |
G |
5: 134,754,628 (GRCm39) |
|
probably benign |
Het |
| Fah |
T |
A |
7: 84,244,043 (GRCm39) |
I239F |
probably damaging |
Het |
| Fbxw5 |
T |
A |
2: 25,392,448 (GRCm39) |
Y77N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,896,833 (GRCm39) |
E602G |
possibly damaging |
Het |
| Gkn3 |
A |
T |
6: 87,365,786 (GRCm39) |
M11K |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,784,045 (GRCm39) |
Y333C |
probably damaging |
Het |
| Gm10762 |
A |
T |
2: 128,809,090 (GRCm39) |
Y86* |
probably null |
Het |
| Gm14496 |
A |
G |
2: 181,642,386 (GRCm39) |
M686V |
probably benign |
Het |
| Gse1 |
T |
A |
8: 121,280,428 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,272,490 (GRCm39) |
N1323K |
probably damaging |
Het |
| Hnrnpd |
T |
A |
5: 100,114,025 (GRCm39) |
E3D |
probably damaging |
Het |
| Htr7 |
T |
A |
19: 35,947,010 (GRCm39) |
I335F |
probably damaging |
Het |
| Ift70b |
T |
A |
2: 75,767,448 (GRCm39) |
N435I |
possibly damaging |
Het |
| Itgae |
A |
T |
11: 73,036,418 (GRCm39) |
I1119F |
probably benign |
Het |
| Lcn11 |
T |
C |
2: 25,669,103 (GRCm39) |
F137S |
probably benign |
Het |
| Lrp3 |
T |
G |
7: 34,903,413 (GRCm39) |
D311A |
possibly damaging |
Het |
| Lrrc1 |
G |
T |
9: 77,349,473 (GRCm39) |
D364E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,383,005 (GRCm39) |
E2456V |
unknown |
Het |
| Lrriq1 |
T |
C |
10: 103,063,045 (GRCm39) |
Y87C |
probably damaging |
Het |
| Mcc |
A |
T |
18: 44,601,457 (GRCm39) |
L449* |
probably null |
Het |
| Mcc |
A |
T |
18: 44,601,458 (GRCm39) |
L624M |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,488,935 (GRCm39) |
T496A |
probably damaging |
Het |
| Myef2 |
T |
A |
2: 124,958,602 (GRCm39) |
D109V |
probably damaging |
Het |
| Myom3 |
C |
T |
4: 135,489,824 (GRCm39) |
|
probably benign |
Het |
| Nanos1 |
G |
T |
19: 60,744,977 (GRCm39) |
G92W |
possibly damaging |
Het |
| Ncor1 |
T |
A |
11: 62,272,240 (GRCm39) |
K84* |
probably null |
Het |
| Neb |
T |
A |
2: 52,181,094 (GRCm39) |
D1171V |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,377,191 (GRCm39) |
W267R |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,980,360 (GRCm39) |
M1K |
probably null |
Het |
| Or8d1 |
A |
C |
9: 38,766,933 (GRCm39) |
T192P |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,355,485 (GRCm39) |
S758P |
probably benign |
Het |
| Pi4k2a |
A |
G |
19: 42,079,371 (GRCm39) |
Q144R |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,392 (GRCm39) |
V327E |
probably benign |
Het |
| Pla2g4a |
C |
T |
1: 149,748,367 (GRCm39) |
W272* |
probably null |
Het |
| Plekha4 |
T |
A |
7: 45,180,000 (GRCm39) |
M1K |
probably null |
Het |
| Ppt2 |
A |
G |
17: 34,844,894 (GRCm39) |
C117R |
probably damaging |
Het |
| Prph |
A |
T |
15: 98,954,267 (GRCm39) |
I222F |
probably damaging |
Het |
| Rbm43 |
T |
C |
2: 51,815,588 (GRCm39) |
D211G |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,398,251 (GRCm39) |
D1072G |
probably benign |
Het |
| Rnf123 |
G |
T |
9: 107,945,531 (GRCm39) |
Q380K |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,415,932 (GRCm39) |
F49S |
probably damaging |
Het |
| Sall4 |
A |
G |
2: 168,597,628 (GRCm39) |
I404T |
probably damaging |
Het |
| Slc25a39 |
G |
A |
11: 102,295,286 (GRCm39) |
P228L |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,677,825 (GRCm39) |
T377A |
possibly damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,491,049 (GRCm39) |
I555T |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,829,715 (GRCm39) |
S980T |
probably damaging |
Het |
| Tmem14a |
G |
T |
1: 21,299,662 (GRCm39) |
L97F |
possibly damaging |
Het |
| Tmem98 |
T |
C |
11: 80,703,461 (GRCm39) |
V26A |
probably benign |
Het |
| Tmppe |
G |
T |
9: 114,234,720 (GRCm39) |
G340W |
probably damaging |
Het |
| Tsc1 |
T |
C |
2: 28,555,613 (GRCm39) |
S237P |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,171,982 (GRCm39) |
R2992W |
probably damaging |
Het |
| Ugt2a2 |
A |
G |
5: 87,608,318 (GRCm39) |
V673A |
possibly damaging |
Het |
| Vmn2r19 |
T |
C |
6: 123,293,067 (GRCm39) |
Y370H |
possibly damaging |
Het |
| Vmn2r20 |
A |
G |
6: 123,373,342 (GRCm39) |
F500S |
possibly damaging |
Het |
| Zc3h7b |
A |
G |
15: 81,653,252 (GRCm39) |
Y47C |
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,465,308 (GRCm39) |
E406G |
possibly damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,599 (GRCm39) |
S521P |
possibly damaging |
Het |
|
| Other mutations in Herc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00927:Herc4
|
APN |
10 |
63,109,316 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00977:Herc4
|
APN |
10 |
63,147,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Herc4
|
APN |
10 |
63,121,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01615:Herc4
|
APN |
10 |
63,126,461 (GRCm39) |
splice site |
probably benign |
|
|
IGL01974:Herc4
|
APN |
10 |
63,135,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02207:Herc4
|
APN |
10 |
63,135,023 (GRCm39) |
splice site |
probably null |
|
|
IGL02215:Herc4
|
APN |
10 |
63,109,345 (GRCm39) |
missense |
probably benign |
|
|
IGL02331:Herc4
|
APN |
10 |
63,099,939 (GRCm39) |
missense |
probably benign |
|
|
IGL02407:Herc4
|
APN |
10 |
63,142,203 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02444:Herc4
|
APN |
10 |
63,142,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02498:Herc4
|
APN |
10 |
63,109,244 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02797:Herc4
|
APN |
10 |
63,152,586 (GRCm39) |
splice site |
probably null |
|
|
IGL02804:Herc4
|
APN |
10 |
63,121,454 (GRCm39) |
missense |
probably benign |
0.10 |
|
Boosted
|
UTSW |
10 |
63,099,950 (GRCm39) |
nonsense |
probably null |
|
|
Factorial
|
UTSW |
10 |
63,121,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
handout
|
UTSW |
10 |
63,151,437 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0499:Herc4
|
UTSW |
10 |
63,099,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Herc4
|
UTSW |
10 |
63,109,350 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0722:Herc4
|
UTSW |
10 |
63,121,844 (GRCm39) |
missense |
probably null |
0.56 |
|
R0738:Herc4
|
UTSW |
10 |
63,124,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1742:Herc4
|
UTSW |
10 |
63,123,728 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1776:Herc4
|
UTSW |
10 |
63,099,950 (GRCm39) |
nonsense |
probably null |
|
|
R1792:Herc4
|
UTSW |
10 |
63,081,680 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1968:Herc4
|
UTSW |
10 |
63,109,304 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1992:Herc4
|
UTSW |
10 |
63,081,743 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2012:Herc4
|
UTSW |
10 |
63,079,817 (GRCm39) |
start gained |
probably benign |
|
|
R2077:Herc4
|
UTSW |
10 |
63,099,832 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2103:Herc4
|
UTSW |
10 |
63,081,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2363:Herc4
|
UTSW |
10 |
63,151,473 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3833:Herc4
|
UTSW |
10 |
63,081,739 (GRCm39) |
missense |
probably benign |
|
|
R4014:Herc4
|
UTSW |
10 |
63,123,323 (GRCm39) |
missense |
probably benign |
|
|
R4084:Herc4
|
UTSW |
10 |
63,119,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Herc4
|
UTSW |
10 |
63,151,437 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4883:Herc4
|
UTSW |
10 |
63,121,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5215:Herc4
|
UTSW |
10 |
63,124,876 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5330:Herc4
|
UTSW |
10 |
63,143,578 (GRCm39) |
nonsense |
probably null |
|
|
R5331:Herc4
|
UTSW |
10 |
63,143,578 (GRCm39) |
nonsense |
probably null |
|
|
R5429:Herc4
|
UTSW |
10 |
63,110,792 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6058:Herc4
|
UTSW |
10 |
63,110,821 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6462:Herc4
|
UTSW |
10 |
63,124,880 (GRCm39) |
missense |
probably benign |
|
|
R6669:Herc4
|
UTSW |
10 |
63,121,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7161:Herc4
|
UTSW |
10 |
63,144,194 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7267:Herc4
|
UTSW |
10 |
63,109,365 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7740:Herc4
|
UTSW |
10 |
63,105,457 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8515:Herc4
|
UTSW |
10 |
63,151,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8896:Herc4
|
UTSW |
10 |
63,147,286 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9117:Herc4
|
UTSW |
10 |
63,126,300 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9332:Herc4
|
UTSW |
10 |
63,144,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:Herc4
|
UTSW |
10 |
63,143,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9530:Herc4
|
UTSW |
10 |
63,126,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Herc4
|
UTSW |
10 |
63,143,528 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGCAAAACTAGACTGTGTTGTC -3'
(R):5'- GATGGACAATTCATGGTTCTGTAC -3'
Sequencing Primer
(F):5'- AGACTGTGTTGTCTAAATTGTTTTCC -3'
(R):5'- GGGCTTTCATCAGTACAGTAGTGAAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation